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rs104886377

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104886377(G;T)
Make rs104886377(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position108624335
GeneCOL4A5
is asnp
is mentioned by
dbSNPrs104886377
ebirs104886377
HLIrs104886377
Exacrs104886377
Varsomers104886377
Maprs104886377
PheGenIrs104886377
hapmaprs104886377
1000 genomesrs104886377
hgdprs104886377
ensemblrs104886377
gopubmedrs104886377
geneviewrs104886377
scholarrs104886377
googlers104886377
pharmgkbrs104886377
gwascentralrs104886377
openSNPrs104886377
23andMers104886377
23andMe allrs104886377
SNP Nexus

SNPshotrs104886377
SNPdbers104886377
MSV3drs104886377
GWAS Ctlgrs104886377
Max Magnitude0
ClinVar
Risk rs104886377(T;T)
Alt rs104886377(T;T)
Reference rs104886377(G;G)
Significance Pathogenic
Disease Alport syndrome
Variation info
Gene COL4A5
CLNDBN Alport syndrome, X-linked recessive
Reversed 0
HGVS NC_000023.10:g.107867565G>T
CLNSRC ARUP COL4A5
CLNACC RCV000021462.1,


[PMID 11223851] Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.

OMIM301050
Desc
Variant
Relatedalso